A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2410560



Internal ID17868865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:56429931..56433545hg38UCSC Ensembl
Innerchr6:56294729..56298343hg19UCSC Ensembl
Innerchr6:56402688..56406302hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg383615
hg193615
hg183615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965727
Supporting Variants
SamplesHGDP01284
Known GenesRNU6-71P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2410560
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer